Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
B4GALT2	8704	broad.mit.edu	37	1	44450680	44450680	+	Silent	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:44450680C>T	uc001clg.2	+	4	1063	c.693C>T	c.(691-693)GGC>GGT	p.G231G	B4GALT2_uc001clh.2_Silent_p.G165G|B4GALT2_uc010okl.1_Silent_p.G260G|B4GALT2_uc001cli.2_Silent_p.G231G	NM_003780	NP_003771	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	231	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACCGCTGCGGCGACCAACCCC	0.612000												
DMRTB1	63948	broad.mit.edu	37	1	53925206	53925206	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:53925206C>T	uc001cvq.1	+	1	135	c.80C>T	c.(79-81)GCG>GTG	p.A27V		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal,	27	DM.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						AAGGGACACGCGGGCAAATGC	0.612000												
ELTD1	64123	broad.mit.edu	37	1	79470902	79470902	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:79470902C>A	uc001diq.3	-	2	181	c.25G>T	c.(25-27)GTT>TTT	p.V9F		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(1)|skin(1)	2				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGGAAAAAACCACTAAATAA	0.318000												
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:147380211C>T	uc001epu.1	+	2	192	c.129C>T	c.(127-129)TTC>TTT	p.F43F		NM_005267	NP_005258	P48165	CXA8_HUMAN	connexin 50	43	Helical; (Potential).				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592000												
UBQLN4	56893	broad.mit.edu	37	1	156012626	156012626	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:156012626G>A	uc001fna.2	-	7	1229	c.1205C>T	c.(1204-1206)TCA>TTA	p.S402L	UBQLN4_uc010pgx.1_Missense_Mutation_p.S382L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	402						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)					GTAGGGTGCTGAGATCACATT	0.522000												
OR10J1	26476	broad.mit.edu	37	1	159409739	159409739	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:159409739T>G	uc010piv.1	+	1	191	c.191T>G	c.(190-192)CTT>CGT	p.L64R	uc001fts.3_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J,	64	Cytoplasmic (Potential).				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0429)					CGAATGGATCTTCATCTTCAC	0.448000												
FCRLB	127943	broad.mit.edu	37	1	161693378	161693378	+	Missense_Mutation	SNP	G	G	A	rs147870526		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:161693378G>A	uc001gbh.2	+	5	508	c.274G>A	c.(274-276)GTC>ATC	p.V92I	FCRLB_uc009wus.2_Missense_Mutation_p.V92I|FCRLB_uc001gbj.2_Missense_Mutation_p.V92I|FCRLB_uc001gbk.2_Missense_Mutation_p.V92I|FCRLB_uc001gbl.2_Missense_Mutation_p.V85I|FCRLB_uc001gbm.2_Missense_Mutation_p.V85I|FCRLB_uc001gbi.2_Missense_Mutation_p.V92I|FCRLB_uc001gbn.3_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	92	Ig-like C2-type 1.					endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGCACCCGTCAGTGACCC	0.577000												
KIAA1383	54627	broad.mit.edu	37	1	232943384	232943384	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:232943384C>T	uc001hvh.2	+	1	2747	c.2615C>T	c.(2614-2616)TCA>TTA	p.S872L		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	hypothetical protein LOC54627	730	Ser-rich.									ovary(1)	1		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GATAGCAGTTCAAGGACAGAA	0.393000												
KIF26B	55083	broad.mit.edu	37	1	245850350	245850350	+	Silent	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:245850350C>A	uc001ibf.1	+	12	4505	c.4065C>A	c.(4063-4065)GCC>GCA	p.A1355A	KIF26B_uc001ibg.1_Silent_p.A973A|KIF26B_uc001ibh.1_Silent_p.A597A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1355					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACAAAGCAGCCCCCATCAAAG	0.547000												
AHCTF1	25909	broad.mit.edu	37	1	247004253	247004253	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:247004253C>T	uc001ibu.1	-	35	6663	c.6656G>A	c.(6655-6657)CGG>CAG	p.R2219Q	AHCTF1_uc001ibv.1_Missense_Mutation_p.R2228Q|AHCTF1_uc009xgs.1_Silent_p.S1052S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	2219	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGAAATCAGCCGAATTTCTAT	0.393000												
ANK3	288	broad.mit.edu	37	10	62021617	62021617	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:62021617C>G	uc001jky.2	-	7	990	c.798G>C	c.(796-798)AGG>AGC	p.R266S	ANK3_uc010qih.1_Missense_Mutation_p.R249S|ANK3_uc001jkz.3_Missense_Mutation_p.R260S|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	ankyrin 3 isoform 1	266					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						GTGCTCTTACCCTTGCGGTGA	0.443000												
HERC4	26091	broad.mit.edu	37	10	69750049	69750049	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:69750049C>A	uc001jng.3	-	14	1863	c.1552G>T	c.(1552-1554)GAT>TAT	p.D518Y	HERC4_uc009xpq.2_Missense_Mutation_p.D59Y|HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.D518Y|HERC4_uc009xpr.2_Missense_Mutation_p.D518Y|HERC4_uc001jni.3_Missense_Mutation_p.D262Y|HERC4_uc001jnj.2_Missense_Mutation_p.D518Y	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	518					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3						TTGTTGGAATCACTCATCAGG	0.368000												
GBF1	8729	broad.mit.edu	37	10	104125283	104125283	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:104125283C>T	uc001kux.1	+	18	2473	c.2233C>T	c.(2233-2235)CGG>TGG	p.R745W	GBF1_uc001kuy.1_Missense_Mutation_p.R745W|GBF1_uc001kuz.1_Missense_Mutation_p.R746W	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	745	SEC7.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAGAACCCTCGGCTGGACAA	0.488000												
OR52J3	119679	broad.mit.edu	37	11	5068218	5068218	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:5068218G>A	uc010qyv.1	+	1	463	c.463G>A	c.(463-465)GTT>ATT	p.V155I		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATTCGTCCCGTTTTACTTAC	0.463000												
FAM160A2	84067	broad.mit.edu	37	11	6232859	6232859	+	Silent	SNP	A	A	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:6232859A>G	uc001mcl.3	-	12	3155	c.2796T>C	c.(2794-2796)CCT>CCC	p.P932P	FAM160A2_uc001mck.3_Silent_p.P946P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	932					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2						TGAGAAATTCAGGGAAAATGA	0.557000												
RBMXL2	27288	broad.mit.edu	37	11	7111495	7111495	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:7111495C>T	uc001mfc.2	+	1	1331	c.1144C>T	c.(1144-1146)CGC>TGC	p.R382C		NM_014469	NP_055284	O75526	HNRGT_HUMAN	testes-specific heterogenous nuclear	382	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding				0				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTAGGAGGCCGCTTGGAGAG	0.567000												
SLC17A6	57084	broad.mit.edu	37	11	22399153	22399153	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:22399153G>T	uc001mqk.2	+	12	2029	c.1616G>T	c.(1615-1617)GGT>GTT	p.G539V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	539	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						ATAAATTATGGTACCACCAAG	0.408000												
OR5AR1	219493	broad.mit.edu	37	11	56431542	56431542	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:56431542T>A	uc010rjm.1	+	1	381	c.381T>A	c.(379-381)TGT>TGA	p.C127*		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGGCCATTTGTCGACCCCTCC	0.517000												
CASP1	834	broad.mit.edu	37	11	104900494	104900494	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:104900494C>G	uc010rve.1	-	6	777	c.760G>C	c.(760-762)GAT>CAT	p.D254H	CASP1_uc001pig.2_Missense_Mutation_p.D161H|CASP1_uc001pik.2_Missense_Mutation_p.D217H|CASP1_uc010rvf.1_Missense_Mutation_p.D161H|CASP1_uc010rvg.1_Missense_Mutation_p.D233H|CASP1_uc010rvh.1_Missense_Mutation_p.D161H|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.D254H|CASP1_uc009yxi.2_Missense_Mutation_p.D233H|CASP1_uc010rvj.1_Missense_Mutation_p.D254H|CASP1_uc009yxj.2_Missense_Mutation_p.D99H|CASP1_uc010rvk.1_Missense_Mutation_p.D215H	NM_033292	NP_150634	P29466	CASP1_HUMAN	caspase 1 isoform alpha precursor	254					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			ovary(2)	2		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGTAGTATATCTGGGACTTGC	0.483000												
SIK2	23235	broad.mit.edu	37	11	111571702	111571702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:111571702C>T	uc001plt.2	+	5	689	c.571C>T	c.(571-573)CAG>TAG	p.Q191*		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	SNF1-like kinase 2	191	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|skin(1)	3						CTTTGAAGGGCAGCAGTATGA	0.458000												
RNF26	79102	broad.mit.edu	37	11	119206667	119206667	+	Missense_Mutation	SNP	C	C	T	rs150176910		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:119206667C>T	uc001pwh.2	+	1	1431	c.835C>T	c.(835-837)CGC>TGC	p.R279C		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	ring finger protein 26	279							zinc ion binding			ovary(1)	1		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCGGCTCTCTCGCCTAGCACT	0.672000												
SORL1	6653	broad.mit.edu	37	11	121425952	121425952	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr11:121425952G>A	uc001pxx.2	+	18	2576	c.2496G>A	c.(2494-2496)GAG>GAA	p.E832E		NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	832	Extracellular (Potential).|LDL-receptor class B 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGGCCTGGAGACAGTAGAAG	0.433000												
C12orf4	57102	broad.mit.edu	37	12	4600345	4600345	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:4600345T>A	uc001qms.2	-	12	1584	c.1496A>T	c.(1495-1497)AAA>ATA	p.K499I	C12orf4_uc001qmt.2_Missense_Mutation_p.K499I	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	hypothetical protein LOC57102	499											0			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATGCTCACCTTTGACACACTT	0.393000												
OR10AD1	121275	broad.mit.edu	37	12	48596917	48596917	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:48596917G>T	uc001rrl.1	-	1	159	c.159C>A	c.(157-159)GAC>GAA	p.D53E		NM_001004134	NP_001004134	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGAGCTTGGGGTCTGTCCAGG	0.537000												
OR10A7	121364	broad.mit.edu	37	12	55615590	55615590	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:55615590G>A	uc010spf.1	+	1	782	c.782G>A	c.(781-783)CGG>CAG	p.R261Q		NM_001005280	NP_001005280	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)	4						ACCTACCTGCGGCCCAAATCA	0.522000												
ATXN2	6311	broad.mit.edu	37	12	111926287	111926287	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:111926287C>A	uc001tsj.2	-	15	2875	c.2713G>T	c.(2713-2715)GCA>TCA	p.A905S	ATXN2_uc001tsh.2_Missense_Mutation_p.A640S|ATXN2_uc001tsi.2_Missense_Mutation_p.A616S|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Missense_Mutation_p.A91S	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	905					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						CACTCAGCTGCGTCTTTCTTC	0.443000												
BRAP	8315	broad.mit.edu	37	12	112119584	112119584	+	Silent	SNP	C	C	T	rs142262681	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:112119584C>T	uc001tsn.3	-	3	494	c.300G>A	c.(298-300)GCG>GCA	p.A100A	BRAP_uc010syh.1_5'UTR|BRAP_uc009zvv.2_Silent_p.A70A	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	100					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						TACTTCTTTGCGCAGTGGGGG	0.408000												
ACADS	35	broad.mit.edu	37	12	121176172	121176172	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:121176172G>A	uc001tza.3	+	6	832	c.714G>A	c.(712-714)ACG>ACA	p.T238T	ACADS_uc010szl.1_Silent_p.T234T|ACADS_uc001tzb.3_Silent_p.T165T	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	238						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GCTCATCCACGGCCAACCTCA	0.612000												
DNAH10	196385	broad.mit.edu	37	12	124325995	124325995	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:124325995G>A	uc001uft.3	+	29	4934	c.4909G>A	c.(4909-4911)GTG>ATG	p.V1637M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1637	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAAGGGCGCGTGGAGGACTG	0.453000												
POLE	5426	broad.mit.edu	37	12	133256628	133256628	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:133256628C>A	uc001uks.1	-	5	379	c.335G>T	c.(334-336)TGT>TTT	p.C112F	POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.C85F	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	DNA-directed DNA polymerase epsilon	112					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TTCTCGCTCACAACCCTAATC	0.438000								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
CHFR	55743	broad.mit.edu	37	12	133435752	133435752	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr12:133435752G>A	uc001ulf.2	-	8	933	c.849C>T	c.(847-849)ACC>ACT	p.T283T	CHFR_uc001ulc.1_RNA|CHFR_uc001ule.2_Silent_p.T271T|CHFR_uc010tbs.1_Silent_p.T283T|CHFR_uc001uld.2_Silent_p.T242T|CHFR_uc010tbt.1_Silent_p.T191T	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains	283					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTCGTGGACGGTTTGGGCAT	0.567000												
CSNK1A1L	122011	broad.mit.edu	37	13	37679324	37679324	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr13:37679324C>T	uc001uwm.1	-	1	478	c.70G>A	c.(70-72)GGG>AGG	p.G24R		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	24	ATP (By similarity).|Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)	1		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GAGCCAGACCCGATCTTCCGC	0.552000												
TEP1	7011	broad.mit.edu	37	14	20863741	20863741	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:20863741G>T	uc001vxe.2	-	12	1836	c.1796C>A	c.(1795-1797)ACT>AAT	p.T599N	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.T491N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	599	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCATTTCTAGTTAGTATCCG	0.463000												
SIP1	8487	broad.mit.edu	37	14	39597518	39597518	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:39597518A>C	uc001wuq.2	+	7	621	c.599A>C	c.(598-600)AAT>ACT	p.N200T	SIP1_uc001wur.2_Missense_Mutation_p.N200T|SIP1_uc001wus.2_Missense_Mutation_p.N185T|SIP1_uc010amx.2_RNA	NM_003616	NP_003607	O14893	GEMI2_HUMAN	SMN-interacting protein 1 isoform alpha	200					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding				0	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0121)		TATCTGAGTAATTGGTTTGGA	0.279000												
LRFN5	145581	broad.mit.edu	37	14	42360632	42360632	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:42360632C>G	uc001wvm.2	+	4	2763	c.1565C>G	c.(1564-1566)TCT>TGT	p.S522C	LRFN5_uc010ana.2_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	522	Extracellular (Potential).					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCATGCAGTCTCAGTTTTTG	0.423000										HNSCC(30;0.082)		
SERPINA10	51156	broad.mit.edu	37	14	94750385	94750385	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr14:94750385G>A	uc001yct.2	-	5	1718	c.1252C>T	c.(1252-1254)CGG>TGG	p.R418W	SERPINA10_uc001ycu.3_Missense_Mutation_p.R418W	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	serine (or cysteine) proteinase inhibitor, clade	418					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAAATGGCCGGTCCACTTTG	0.453000												
EEF2K	29904	broad.mit.edu	37	16	22278169	22278169	+	Missense_Mutation	SNP	A	A	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr16:22278169A>T	uc002dki.2	+	15	2221	c.1736A>T	c.(1735-1737)CAT>CTT	p.H579L	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	579					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)		CAGTTGCCTCATCACATCCTA	0.637000												
ADAMTS18	170692	broad.mit.edu	37	16	77325275	77325275	+	Missense_Mutation	SNP	C	C	T	rs150975249	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr16:77325275C>T	uc002ffc.3	-	21	3709	c.3290G>A	c.(3289-3291)CGT>CAT	p.R1097H		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1097	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						CTTAATATTACGGCATCTTCG	0.502000												
SLC16A13	201232	broad.mit.edu	37	17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr17:6941923C>T	uc002geh.2	+	3	1104	c.796C>T	c.(796-798)CGT>TGT	p.R266C		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	monocarboxylate transporter 13	266	Helical; (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)|skin(1)	2						CCTCGTGGGGCGTGTGGTCTC	0.602000												
DSC1	1823	broad.mit.edu	37	18	28710576	28710576	+	Silent	SNP	T	T	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr18:28710576T>A	uc002kwn.2	-	16	2848	c.2586A>T	c.(2584-2586)GTA>GTT	p.V862V	DSC1_uc002kwm.2_3'UTR|uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	desmocollin 1 isoform Dsc1a preproprotein	862	Cytoplasmic (Potential).				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCAGCAACCTACTGAGCCGG	0.438000												
EMR2	30817	broad.mit.edu	37	19	14887536	14887536	+	Splice_Site	SNP	A	A	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:14887536A>G	uc002mzp.1	-	2	487	c.31_splice	c.e2+1	p.A11_splice	EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Splice_Site_p.A11_splice|EMR2_uc002mzq.1_Splice_Site_p.A11_splice|EMR2_uc002mzr.1_Splice_Site_p.A11_splice|EMR2_uc002mzs.1_Splice_Site_p.A11_splice|EMR2_uc002mzt.1_Splice_Site_p.A11_splice|EMR2_uc002mzu.1_Splice_Site_p.A11_splice|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone						cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						CAAAGTACTTACCGAGAAAGA	0.652000												
MAST3	23031	broad.mit.edu	37	19	18255381	18255381	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:18255381G>A	uc002nhz.3	+	22	2603	c.2603G>A	c.(2602-2604)GGC>GAC	p.G868D		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	868							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						CGCCTTGGGGGCCCAAGAGAC	0.701000												
ZNF568	374900	broad.mit.edu	37	19	37441189	37441189	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:37441189G>A	uc002ofc.2	+	7	1649	c.1134G>A	c.(1132-1134)ACG>ACA	p.T378T	ZNF568_uc010efg.2_Intron|ZNF568_uc010xtn.1_Intron|ZNF568_uc002ofd.2_Silent_p.T302T|ZNF568_uc010efe.2_Silent_p.T302T|ZNF568_uc010eff.1_Intron	NM_198539	NP_940941	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	378	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCTGTTACGCTACATATGA	0.358000												
QPCTL	54814	broad.mit.edu	37	19	46195970	46195970	+	Silent	SNP	C	C	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr19:46195970C>G	uc010xxr.1	+	1	230	c.9C>G	c.(7-9)TCC>TCG	p.S3S	SNRPD2_uc002pcv.2_5'Flank|SNRPD2_uc002pcw.2_5'Flank|QPCTL_uc010ekn.2_Silent_p.S3S	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	3					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCATGCGTTCCGGGGGCCGCG	0.662000												
NRXN1	9378	broad.mit.edu	37	2	51255000	51255000	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:51255000C>A	uc010fbq.2	-	2	1889	c.412G>T	c.(412-414)GTG>TTG	p.V138L	NRXN1_uc002rxe.3_Missense_Mutation_p.V138L|NRXN1_uc002rxd.1_Missense_Mutation_p.V138L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	neurexin 1 isoform alpha2 precursor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGACCTCCACCCACTTGGCC	0.682000												
IL1RL2	8808	broad.mit.edu	37	2	102836364	102836364	+	Missense_Mutation	SNP	A	A	T	rs139096768	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:102836364A>T	uc002tbs.2	+	8	1004	c.878A>T	c.(877-879)CAT>CTT	p.H293L	IL1RL2_uc002tbt.2_Missense_Mutation_p.H175L	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	293	Extracellular (Potential).|Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2						TTTCGGGAACATAATTTGTAC	0.358000												
GLI2	2736	broad.mit.edu	37	2	121736090	121736090	+	Silent	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:121736090C>A	uc010flp.2	+	9	1479	c.1449C>A	c.(1447-1449)CCC>CCA	p.P483P	GLI2_uc002tmq.1_Silent_p.P155P|GLI2_uc002tmr.1_Silent_p.P138P|GLI2_uc002tmt.3_Silent_p.P155P|GLI2_uc002tmu.3_Silent_p.P138P|GLI2_uc002tmw.1_Silent_p.P466P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	483	C2H2-type 2; degenerate.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGAAGCCCTTCAAGGCGC	0.647000												
PDE1A	5136	broad.mit.edu	37	2	183129090	183129090	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:183129090G>T	uc002uos.2	-	3	237	c.153C>A	c.(151-153)GAC>GAA	p.D51E	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.D51E|PDE1A_uc010zfq.1_Missense_Mutation_p.D51E|PDE1A_uc002uor.2_Missense_Mutation_p.D35E|PDE1A_uc002uov.1_RNA	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	51					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TCTTCTTTAAGTCGACGACGT	0.358000												
CPS1	1373	broad.mit.edu	37	2	211473150	211473150	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:211473150T>C	uc002vee.3	+	19	2390	c.2258T>C	c.(2257-2259)GTC>GCC	p.V753A	CPS1_uc010fur.2_Missense_Mutation_p.V759A|CPS1_uc010fus.2_Missense_Mutation_p.V302A	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	753					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTAAGAACGTCGTATCCGGG	0.423000												
SH3BP4	23677	broad.mit.edu	37	2	235950502	235950502	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr2:235950502G>A	uc002vvp.2	+	4	1482	c.1089G>A	c.(1087-1089)CCG>CCA	p.P363P	SH3BP4_uc010fym.2_Silent_p.P363P|SH3BP4_uc002vvq.2_Silent_p.P363P	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	363					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACCCCCCGCTGGAGCTCA	0.597000												
RASSF2	9770	broad.mit.edu	37	20	4771185	4771185	+	Missense_Mutation	SNP	C	C	T	rs145104204	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:4771185C>T	uc002wld.2	-	6	503	c.449G>A	c.(448-450)CGT>CAT	p.R150H	RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R150H	NM_170774	NP_739580	P50749	RASF2_HUMAN	Ras association domain family 2	150					cell cycle|signal transduction	nucleus	protein binding			ovary(3)|lung(2)|large_intestine(1)	6						GCCACGGCGACGCACCCCAAC	0.587000												
FOXS1	2307	broad.mit.edu	37	20	30432356	30432356	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:30432356C>A	uc002wwt.1	-	1	1065	c.990G>T	c.(988-990)GAG>GAT	p.E330D		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	330					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1						GCTGCCTTTACTCAAAGAAGA	0.627000												
ZHX3	23051	broad.mit.edu	37	20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:39832810G>T	uc002xjs.1	-	3	1125	c.747C>A	c.(745-747)AAC>AAA	p.N249K	ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587000												
TOX2	84969	broad.mit.edu	37	20	42695466	42695466	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:42695466C>A	uc002xlf.3	+	7	1416	c.1399C>A	c.(1399-1401)CCC>ACC	p.P467T	TOX2_uc010ggo.2_Missense_Mutation_p.P485T|TOX2_uc002xle.3_Missense_Mutation_p.P443T|TOX2_uc010ggp.2_Missense_Mutation_p.P443T|TOX2_uc002xlg.2_Missense_Mutation_p.P284T|TOX2_uc010zwk.1_Missense_Mutation_p.P363T	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCAGCTACCCCAGTGGGGA	0.642000												
ZNF831	128611	broad.mit.edu	37	20	57769755	57769755	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:57769755C>A	uc002yan.2	+	1	3681	c.3681C>A	c.(3679-3681)AGC>AGA	p.S1227R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1227						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CTCCTGGGAGCAATGGAGGAT	0.627000												
LAMA5	3911	broad.mit.edu	37	20	60903046	60903046	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:60903046C>A	uc002ycq.2	-	36	4740	c.4673G>T	c.(4672-4674)GGG>GTG	p.G1558V		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1558	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCGGCGCCCAGTCACGTT	0.692000												
UCKL1	54963	broad.mit.edu	37	20	62571773	62571773	+	Silent	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:62571773C>A	uc010gkn.2	-	13	1411	c.1368G>T	c.(1366-1368)GTG>GTT	p.V456V	UCKL1_uc002yhj.2_Silent_p.V99V|UCKL1_uc011abm.1_Silent_p.V441V|UCKL1_uc011abn.1_RNA	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	456					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCCCGTGGACACGGTGCAGT	0.662000												
TCEA2	6919	broad.mit.edu	37	20	62700799	62700799	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:62700799C>T	uc011abs.1	+	5	1071	c.415C>T	c.(415-417)CGC>TGC	p.R139C	TCEA2_uc011abr.1_Missense_Mutation_p.R112C|TCEA2_uc010gkq.2_Missense_Mutation_p.R112C|TCEA2_uc010gks.2_Missense_Mutation_p.R139C|TCEA2_uc010gkt.2_Missense_Mutation_p.R112C|TCEA2_uc010gku.1_Silent_p.C82C	NM_003195	NP_003186	Q15560	TCEA2_HUMAN	transcription elongation factor A protein 2	139	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGATGCCGTGCGCAACAAGTG	0.682000												
DSCR6	53820	broad.mit.edu	37	21	38390196	38390196	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr21:38390196C>G	uc002yvv.2	+	4	472	c.262C>G	c.(262-264)CGT>GGT	p.R88G	DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Down syndrome critical region protein 6	88	Ripply homology domain.					nucleus				breast(1)	1		Myeloproliferative disorder(46;0.0632)				CATGTCAAAGCGTCAAGAATA	0.443000												
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	T	rs147847700	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr21:40578076C>T	uc002yxk.1	-	37	4461	c.4322G>A	c.(4321-4323)CGG>CAG	p.R1441Q	BRWD1_uc010goc.1_Missense_Mutation_p.R84Q|BRWD1_uc002yxl.2_Missense_Mutation_p.R1441Q|BRWD1_uc010god.1_Missense_Mutation_p.R359Q	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.294000												
CLTCL1	8218	broad.mit.edu	37	22	19241744	19241744	+	Missense_Mutation	SNP	T	T	C			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr22:19241744T>C	uc002zpb.2	-	3	332	c.257A>G	c.(256-258)AAG>AGG	p.K86R	CLTCL1_uc011agv.1_Missense_Mutation_p.K86R|CLTCL1_uc011agw.1_Missense_Mutation_p.K86R	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	86	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CTGAAGTGTCTTCCCAGCTAG	0.299000			T	?	ALCL							
TIMP3	7078	broad.mit.edu	37	22	33254081	33254081	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr22:33254081C>T	uc003anb.2	+	4	1580	c.394C>T	c.(394-396)CGC>TGC	p.R132C	SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	tissue inhibitor of metalloproteinase 3	132	NTR.|Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			lung(1)	1						CCTCTCCCAGCGCAAGGGGCT	0.562000												
SBF1	6305	broad.mit.edu	37	22	50905993	50905993	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr22:50905993C>A	uc003blh.2	-	4	601	c.406G>T	c.(406-408)GTG>TTG	p.V136L	SBF1_uc011arx.1_5'Flank|SBF1_uc003bli.2_Missense_Mutation_p.V137L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	SET binding factor 1	136	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity				0		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCGCGACACCAGTACCAGC	0.672000												
SCN11A	11280	broad.mit.edu	37	3	38888715	38888715	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr3:38888715C>T	uc011ays.1	-	26	5045	c.4846G>A	c.(4846-4848)GAC>AAC	p.D1616N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1616					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCCAAAGGGTCCTCACTTTCT	0.368000												
LPP	4026	broad.mit.edu	37	3	188242498	188242499	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr3:188242498_188242499GA>TT	uc003frs.1	+	5	598_599	c.352_353GA>TT	c.(352-354)GAC>TTC	p.D118F	LPP_uc011bsg.1_Missense_Mutation_p.D118F|LPP_uc011bsi.1_Missense_Mutation_p.D118F|LPP_uc003frt.2_Missense_Mutation_p.D118F	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	118	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CTCCAGCCTGGACGCTGAGATT	0.520000			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
TECRL	253017	broad.mit.edu	37	4	65155449	65155449	+	Missense_Mutation	SNP	A	A	C			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr4:65155449A>C	uc003hcv.2	-	9	920	c.811T>G	c.(811-813)TTG>GTG	p.L271V		NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	271					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						GGATGAGACAACATTACATTG	0.274000												
TRIML2	205860	broad.mit.edu	37	4	189012609	189012609	+	Missense_Mutation	SNP	C	C	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr4:189012609C>A	uc003izl.2	-	7	1118	c.1082G>T	c.(1081-1083)TGT>TTT	p.C361F	TRIML2_uc003izj.1_Missense_Mutation_p.C189F|TRIML2_uc003izk.1_Missense_Mutation_p.C169F|TRIML2_uc011cle.1_Missense_Mutation_p.C436F	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	361	B30.2/SPRY.						ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATTTGGGATACAGAGGGAAAA	0.463000												
OXCT1	5019	broad.mit.edu	37	5	41739516	41739516	+	Missense_Mutation	SNP	C	C	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr5:41739516C>G	uc003jmn.2	-	16	1828	c.1497G>C	c.(1495-1497)CAG>CAC	p.Q499H	OXCT1_uc011cpo.1_Missense_Mutation_p.Q102H|OXCT1_uc011cpp.1_Missense_Mutation_p.Q102H	NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	499					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)	CAGTACTCTTCTGTACGTCAT	0.433000												
MSH3	4437	broad.mit.edu	37	5	79968173	79968173	+	Silent	SNP	A	A	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr5:79968173A>T	uc003kgz.2	+	5	1156	c.903A>T	c.(901-903)GGA>GGT	p.G301G		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	301					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGGCAAAAGGATATAAGGTCA	0.423000								MMR				
ELOVL2	54898	broad.mit.edu	37	6	10990028	10990028	+	Missense_Mutation	SNP	C	C	T	rs6919726	byFrequency	TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:10990028C>T	uc003mzp.3	-	7	834	c.673G>A	c.(673-675)GTG>ATG	p.V225M		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	elongation of very long chain fatty acids-like	225	Helical; (Potential).				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding				0	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CACGGTTTCACGACGGCGCTC	0.532000												
ETV7	51513	broad.mit.edu	37	6	36343663	36343663	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:36343663G>A	uc003omb.2	-	3	441	c.292C>T	c.(292-294)CGT>TGT	p.R98C	ETV7_uc003olz.1_Missense_Mutation_p.R98C|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Intron|ETV7_uc010jwj.2_Missense_Mutation_p.P25L|ETV7_uc010jwh.2_Missense_Mutation_p.R17C|ETV7_uc010jwi.2_Missense_Mutation_p.R98C|ETV7_uc011dtl.1_Intron	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	98	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CTGGGCGCACGGTGCCGGAAG	0.662000												
FAM46A	55603	broad.mit.edu	37	6	82459692	82459692	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:82459692C>T	uc003pjg.2	-	3	1367	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	FAM46A_uc003pjf.2_Missense_Mutation_p.R369H	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	350											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CTCATACTTGCGGTCTTCCAA	0.438000												
FOXO3	2309	broad.mit.edu	37	6	108985299	108985299	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr6:108985299G>A	uc003psk.2	+	3	1579	c.1263G>A	c.(1261-1263)TCG>TCA	p.S421S	FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.S421S|FOXO3_uc011ean.1_Silent_p.S201S|FOXO3_uc010kdj.1_Silent_p.S201S	NM_201559	NP_963853	O43524	FOXO3_HUMAN	forkhead box O3A	421					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(4)|lung(2)	6		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCAAGGGCTCGGGCCTGGGCT	0.597000												
TAS2R4	50832	broad.mit.edu	37	7	141478766	141478766	+	Missense_Mutation	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr7:141478766G>A	uc003vwq.1	+	1	478	c.478G>A	c.(478-480)GTG>ATG	p.V160M		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	taste receptor T2R4	160	Extracellular (Potential).				sensory perception of taste	cilium membrane	taste receptor activity				0	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCCTGAACTTGTGACTACGAG	0.453000												
RP1	6101	broad.mit.edu	37	8	55533785	55533785	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr8:55533785C>T	uc003xsd.1	+	2	407	c.259C>T	c.(259-261)CGG>TGG	p.R87W	RP1_uc011ldy.1_Missense_Mutation_p.R87W	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	87	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGCACCCCTCGGGGCAGGCA	0.592000												
ADCY8	114	broad.mit.edu	37	8	131795957	131795957	+	Missense_Mutation	SNP	T	T	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr8:131795957T>A	uc003ytd.3	-	17	3504	c.3248A>T	c.(3247-3249)AAC>ATC	p.N1083I	ADCY8_uc010mds.2_Missense_Mutation_p.N952I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	1083	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTCAAAATTGTTGAATGAATG	0.512000										HNSCC(32;0.087)		
HAUS6	54801	broad.mit.edu	37	9	19063161	19063161	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:19063161T>G	uc003znk.2	-	14	1727	c.1474A>C	c.(1474-1476)AAT>CAT	p.N492H	HAUS6_uc011lmz.1_Missense_Mutation_p.N212H|HAUS6_uc003znl.1_Missense_Mutation_p.N356H|HAUS6_uc003znm.1_Missense_Mutation_p.N247H	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	492					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2						ATTGCTTCATTTTTTTCTTTG	0.358000												
FBXW2	26190	broad.mit.edu	37	9	123527050	123527050	+	Silent	SNP	G	G	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:123527050G>A	uc004bkl.1	-	8	1313	c.1152C>T	c.(1150-1152)AAC>AAT	p.N384N	FBXW2_uc011lyc.1_Silent_p.N255N|FBXW2_uc004bkn.2_Silent_p.N416N|FBXW2_uc004bkm.1_Silent_p.N384N|FBXW2_uc010mvj.1_Silent_p.N319N	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	384					proteolysis		protein binding|ubiquitin-protein ligase activity			urinary_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						ACAGGTAGCGGTTGTCAAACA	0.507000												
TOR1A	1861	broad.mit.edu	37	9	132580876	132580876	+	Missense_Mutation	SNP	C	C	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:132580876C>T	uc004byl.2	-	4	748	c.671G>A	c.(670-672)AGT>AAT	p.S224N	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	224					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				CTGCTTTCCACTCCTCCAGAA	0.493000												
KCNT1	57582	broad.mit.edu	37	9	138683695	138683695	+	Silent	SNP	G	G	A	rs144068763		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:138683695G>A	uc011mdq.1	+	30	3629	c.3555G>A	c.(3553-3555)CCG>CCA	p.P1185P	KCNT1_uc011mdr.1_Silent_p.P1033P|KCNT1_uc010nbf.2_Silent_p.P1161P	NM_020822	NP_065873	Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	1185						membrane	binding|calcium-activated potassium channel activity			large_intestine(2)|ovary(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCAACCCTCCGCCCGACACGA	0.642000												
CYLC1	1538	broad.mit.edu	37	X	83128442	83128442	+	Missense_Mutation	SNP	T	T	G			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chrX:83128442T>G	uc004eei.1	+	4	747	c.726T>G	c.(724-726)AGT>AGG	p.S242R	CYLC1_uc004eeh.1_Missense_Mutation_p.S241R	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	242					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						CAGAAAATAGTTTAAATGTTG	0.323000												
MAGEC1	9947	broad.mit.edu	37	X	140994530	140994530	+	Missense_Mutation	SNP	T	T	G	rs57605162		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chrX:140994530T>G	uc004fbt.2	+	4	1626	c.1340T>G	c.(1339-1341)GTG>GGG	p.V447G	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	447							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATTCCTGTGAGCTCCTCT	0.453000										HNSCC(15;0.026)		
TM9SF3	56889	broad.mit.edu	37	10	98292810	98292811	+	Splice_Site	INS	-	-	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:98292809_98292810A>AT	uc001kmm.4	-	10	1542	c.1325_splice	c.e10+1	p.W442_splice		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	442						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCTCTTTACCATTTTTTCTCCG	0.376												
PHTF1	10745	broad.mit.edu	37	1	114267498	114267499	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:114267498_114267499delAC	uc009wgp.1	-	6	957_958	c.505_506delGT	c.(505-507)GTAfs	p.V169fs	PHTF1_uc001edn.2_Frame_Shift_Del_p.V169fs|PHTF1_uc010own.1_Frame_Shift_Del_p.V169fs	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCACCATTTACAGTTTTTCGT	0.332												
HSPA6	3310	broad.mit.edu	37	1	161494681	161494682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:161494681_161494682insA	uc001gap.2	+	2	893_894	c.233_234insA	c.(232-234)CGCfs	p.R78fs	HSPA6_uc001gaq.2_Frame_Shift_Ins_p.R78fs	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	78					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGATCGGGCGCAAGTTCGCGG	0.688												
TM9SF3	56889	broad.mit.edu	37	10	98292809	98292810	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:98292809_98292810insT	uc001kmm.3	-	10	1540_1541	c.1323_1324insA	c.(1321-1326)AAATGGfs	p.K441fs	TM9SF3_uc010qot.1_Frame_Shift_Ins_p.K441fs	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	441_442						integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCTCTTTACCATTTTTTCTCCG	0.376												
WBP4	11193	broad.mit.edu	37	13	41639174	41639177	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr13:41639174_41639177delGAAA	uc001uxt.2	+	3	211_214	c.98_101delGAAA	c.(97-102)GGAAAGfs	p.G33fs	WBP4_uc010tfd.1_Intron	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	33_34	Matrin-type.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CATGAAAGAGGAAAGAATCATAAG	0.270												
CDKN2A	1029	broad.mit.edu	37	9	21971024	21971024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:21971024delG	uc003zpk.2	-	2	546	c.334delC	c.(334-336)CGTfs	p.R112fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.P167fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	112	ANK 4.		R -> RR (in CMM2).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.R112G(4)|p.H83fs*2(2)|p.R112fs(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACGGGCAGACGGCCCCAGGCA	0.736		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
KIAA0907	22889	broad.mit.edu	37	1	155884048	155884049	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:155884047_155884048ATC>A	uc001fmi.1	-	13	1733_1734	c.1709_1710GAT>T	c.(1708-1710)gatfs	p.D570fs	RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	570										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CATCAGATGAATCTGCAGCATA	0.446												
HSPA6	3310	broad.mit.edu	37	1	161494682	161494683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr1:161494681_161494682G>GA	uc001gaq.3	+	0	646_647	c.233_234G>GA	c.(232-234)cgcfs	p.R78fs	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	78					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGATCGGGCGCAAGTTCGCGG	0.688												
ADCY2	108	broad.mit.edu	37	5	7727327	7727328	+	Frame_Shift_Del	DEL	TC	TC	-	rs113337472		TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr5:7727326_7727327GTC>G	uc003jdz.1	+	13	1890_1891	c.1823_1824GTC>G	c.(1822-1824)tgtfs	p.C608fs	ADCY2_uc011cmo.1_Frame_Shift_Del_p.C428fs	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	608					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTGTGCCTGTCTCATATTCT	0.510												
CDKN2A	1029	broad.mit.edu	37	9	21974715	21974732	+	In_Frame_Del	DEL	GCAGCGCCCCCGCCTCCA	GCAGCGCCCCCGCCTCCA	-			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr9:21974714_21974731GGCAGCGCCCCCGCCTCCA>G	uc003zpk.3	-	0	402_419	c.96_113TGGAGGCGGGGGCGCTGCC>C	c.(94-114)ctggaggcgggggcgctgccc>ctCc	p.EAGALP33del	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_In_Frame_Del_p.EAGALP33del|CDKN2A_uc010miu.3_In_Frame_Del_p.EAGALP33del|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	33			E -> D (in a biliary tract tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L32_L37del(11)|p.G35E(6)|p.A36T(4)|p.L37L(4)|p.A34V(4)|p.V28_E33del(4)|p.E33*(4)|p.R29_A34del(4)|p.G35R(4)|p.E33D(2)|p.L32R(2)|p.A34A(2)|p.E33fs*8(2)|p.L37fs*6(2)|p.A36fs*8(2)|p.P38L(2)|p.G35fs*13(2)|p.V28_V51del(2)|p.P38fs*7(2)|p.G35V(2)|p.R29fs*9(1)|p.0(1)|p.A21_L32del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGTGCGTTGGGCAGCGCCCCCGCCTCCAGCAGCGCCC	0.711		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)		
TM9SF3	56889	broad.mit.edu	37	10	98292810	98292811	+	Splice_Site	INS	-	-	T			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr10:98292809_98292810A>AT	uc001kmm.4	-	10	1542	c.1325_splice	c.e10+1	p.W442_splice		NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	Homo sapiens transmembrane 9 superfamily member 3 (TM9SF3), mRNA.	442						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TCTCTTTACCATTTTTTCTCCG	0.376												
C20orf112	140688	broad.mit.edu	37	20	31043938	31043939	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HF-7136-01A-11D-2053-08	TCGA-HF-7136-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	622eaa04-b8f9-471b-98b0-7befd119f14c	8417a72f-a578-450f-8e74-17faef5b8f67	g.chr20:31043937_31043938ACC>A	uc002wxu.4	-	2	527_528	c.370_371GGT>T	c.(370-372)gtgfs	p.V124fs		NM_080616	NP_542183	Q96MY1	CT112_HUMAN	Homo sapiens chromosome 20 open reading frame 112 (C20orf112), mRNA.	124										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						GGTGGTCTTCACCCCGTATTTG	0.629												
